Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARHGEF28_chr5_73621196_73946990	73741375	GTGTGTGT others(31): Show GTGTGTGTGTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp1 HG02965.hp1 NA19030.hp1	a0003 a0038 a0003 a0038	a0003c0007 a0038c0051 a0003c0007 a0038c0051	a0003c0007t0005 a0038c0051t0001 a0003c0007t0005 a0038c0051t0001	a0003c0007t0005g0151 a0038c0051t0001g0150 a0003c0007t0005g0151 a0038c0051t0001g0150	2	158	0.0127	-38	c.34- others(53): Show c.34-8460_34-8423delGTGTGTGTGTATATATATATATATATATAT ATATATAT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF4_chr2_130831914_131052253	130833379	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	134	0.0075	-38	c.-35 others(49): Show c.-3574_-3537delAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAA AAGA		ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding					3534		chr2	TogoVar
ARHGEF6_chrX_136660550_136785932	136764345	TTCACAGC others(31): Show TTCACAGCAAACAAAAACTGGAAACAATGTAGATGTCCA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	245	0.0041	-38	c.249 others(57): Show c.249+15031_249+15068delTGGACATCTACATTGTTTCCAGTTTT TGTTTGCTGTGA		ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	2/21						chrX	TogoVar
ARID2_chr12_45724706_45913037	45899673	ATATATGG others(31): Show ATATATGGTTATATATATATGGTTATATATATATATGGT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03704.hp1 HG04115.hp2 others(3): Show HG03516.hp2 HG03704.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0003g0280 others(3): Show a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283	6	301	0.0199	-38	c.536 others(57): Show c.5364-5255_5364-5218delGGTTATATATATATGGTTATATATAT ATATGGTTATAT		ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
ARIH1_chr15_72469330_72607987	72513702	TCCCTCCC others(31): Show TCCCTCCCTCCCTCCCCCTGTCCCTCCTTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0232 a0001c0001t0111g0232	1	260	0.0038	-38	c.376 others(55): Show c.376-4346_376-4309delGTCCCTCCTTCCCTCCCTCCCCCTCCCT CCCTCCCCCT		ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ARK2C_chr18_46329018_46468140	46397559	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGGTCATGCTGGGGTGTGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00642.hp2 others(29): Show HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG01106.hp1 HG01496.hp2 HG02071.hp1 HG02083.hp1 HG02523.hp1 HG02647.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18981.hp2 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19060.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0022 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0054 a0001c0001t0063	a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0001g0079 others(29): Show a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0135 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0028 a0001c0001t0003g0256 a0001c0001t0004g0096 a0001c0001t0004g0113 a0001c0001t0004g0140 a0001c0001t0005g0168 a0001c0001t0009g0093 a0001c0001t0009g0097 a0001c0001t0013g0114 a0001c0001t0022g0183 a0001c0001t0022g0185 a0001c0001t0044g0104 a0001c0001t0048g0147 a0001c0001t0050g0084 a0001c0001t0054g0241 a0001c0001t0063g0032	32	240	0.1333	-38	c.62- others(55): Show c.62-35615_62-35578delTGGTCATGCTGGGGTGTGAGGGTGTGTG TGTGTGTGTG		ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL10_chr5_176360487_176386909	176368658	AGGGTGGG others(31): Show AGGGTGGGGTGGGGGCTGTGGGCAGTGAGCGGGGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0122 a0001c0002t0156 a0001c0001t0122 a0001c0002t0156	a0001c0001t0122g0085 a0001c0002t0156g0078 a0001c0001t0122g0085 a0001c0002t0156g0078	2	415	0.0048	-38	c.386 others(51): Show c.386-70_386-33delGTGGGGTGGGGGCTGTGGGCAGTGAGCGGGGG CCCGGG		ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL10_chr5_176360487_176386909	176371498	GCCTGATA others(31): Show GCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(225): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(119): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0083 a0001c0001t0086 a0001c0001t0091 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0128 a0001c0001t0138 a0001c0001t0149 a0001c0001t0155 a0001c0001t0173 a0001c0001t0179 a0001c0001t0180 a0001c0001t0184 a0001c0001t0185 a0001c0001t0190 a0001c0001t0191 a0001c0001t0193 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0025 a0001c0002t0027 a0001c0002t0042 a0001c0002t0044 a0001c0002t0048 a0001c0002t0051 a0001c0002t0057 a0001c0002t0062 a0001c0002t0063 a0001c0002t0079 a0001c0002t0081 a0001c0002t0082 a0001c0002t0084 a0001c0002t0089 a0001c0002t0107 a0001c0002t0129 a0001c0002t0131 a0001c0002t0133 a0001c0002t0134 a0001c0002t0137 a0001c0002t0139 a0001c0002t0156 a0001c0002t0160 a0001c0002t0161 a0001c0002t0164 a0001c0002t0167 a0001c0002t0182 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0016 a0001c0003t0017 a0001c0003t0035 a0001c0003t0060 a0001c0003t0061 a0001c0003t0085 a0001c0003t0087 a0001c0003t0088 a0001c0003t0090 a0001c0003t0142 a0001c0003t0143 a0001c0003t0147 a0001c0004t0037	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0087 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0080 a0001c0001t0002g0111 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0019 a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0109 a0001c0001t0009g0009 a0001c0001t0009g0018 a0001c0001t0009g0110 a0001c0001t0010g0001 a0001c0001t0010g0004 a0001c0001t0010g0014 a0001c0001t0010g0046 a0001c0001t0011g0004 a0001c0001t0012g0009 a0001c0001t0012g0018 a0001c0001t0012g0041 a0001c0001t0013g0004 a0001c0001t0013g0014 a0001c0001t0015g0009 a0001c0001t0015g0047 a0001c0001t0016g0026 a0001c0001t0016g0101 a0001c0001t0017g0004 a0001c0001t0018g0001 a0001c0001t0018g0004 a0001c0001t0018g0112 a0001c0001t0019g0004 a0001c0001t0019g0095 a0001c0001t0023g0001 a0001c0001t0030g0091 a0001c0001t0030g0092 a0001c0001t0031g0009 a0001c0001t0033g0004 a0001c0001t0033g0105 a0001c0001t0034g0048 a0001c0001t0037g0001 a0001c0001t0038g0001 a0001c0001t0039g0019 a0001c0001t0039g0096 a0001c0001t0040g0004 a0001c0001t0041g0001 a0001c0001t0064g0004 a0001c0001t0065g0004 a0001c0001t0067g0004 a0001c0001t0068g0004 a0001c0001t0073g0004 a0001c0001t0074g0009 a0001c0001t0075g0047 a0001c0001t0076g0004 a0001c0001t0077g0009 a0001c0001t0083g0009 a0001c0001t0086g0001 a0001c0001t0091g0004 a0001c0001t0094g0049 a0001c0001t0095g0049 a0001c0001t0097g0004 a0001c0001t0099g0001 a0001c0001t0100g0001 a0001c0001t0103g0004 a0001c0001t0104g0015 a0001c0001t0105g0001 a0001c0001t0106g0001 a0001c0001t0109g0040 a0001c0001t0110g0001 a0001c0001t0111g0004 a0001c0001t0112g0019 a0001c0001t0113g0004 a0001c0001t0114g0001 a0001c0001t0115g0001 a0001c0001t0116g0001 a0001c0001t0118g0001 a0001c0001t0120g0004 a0001c0001t0121g0004 a0001c0001t0123g0001 a0001c0001t0128g0009 a0001c0001t0138g0018 a0001c0001t0149g0001 a0001c0001t0155g0001 a0001c0001t0173g0001 a0001c0001t0179g0001 a0001c0001t0180g0015 a0001c0001t0184g0103 a0001c0001t0185g0001 a0001c0001t0190g0001 a0001c0001t0191g0001 a0001c0001t0193g0004 a0001c0002t0001g0003 a0001c0002t0003g0003 a0001c0002t0005g0011 a0001c0002t0006g0003 a0001c0002t0006g0064 a0001c0002t0007g0003 a0001c0002t0007g0011 a0001c0002t0009g0069 a0001c0002t0011g0003 a0001c0002t0011g0072 a0001c0002t0012g0003 a0001c0002t0013g0003 a0001c0002t0013g0065 a0001c0002t0025g0003 a0001c0002t0025g0011 a0001c0002t0027g0003 a0001c0002t0042g0003 a0001c0002t0044g0003 a0001c0002t0048g0003 a0001c0002t0051g0073 a0001c0002t0057g0003 a0001c0002t0062g0054 a0001c0002t0063g0003 a0001c0002t0079g0077 a0001c0002t0081g0011 a0001c0002t0082g0011 a0001c0002t0084g0003 a0001c0002t0089g0003 a0001c0002t0107g0003 a0001c0002t0129g0003 a0001c0002t0131g0003 a0001c0002t0133g0011 a0001c0002t0134g0003 a0001c0002t0137g0003 a0001c0002t0139g0003 a0001c0002t0156g0078 a0001c0002t0160g0003 a0001c0002t0161g0003 a0001c0002t0164g0003 a0001c0002t0167g0003 a0001c0002t0182g0081 a0001c0003t0003g0007 a0001c0003t0003g0010 a0001c0003t0004g0007 a0001c0003t0004g0028 a0001c0003t0014g0010 a0001c0003t0014g0057 a0001c0003t0016g0024 a0001c0003t0016g0028 a0001c0003t0017g0007 a0001c0003t0017g0061 a0001c0003t0035g0007 a0001c0003t0060g0074 a0001c0003t0061g0010 a0001c0003t0085g0007 a0001c0003t0087g0007 a0001c0003t0088g0007 a0001c0003t0090g0010 a0001c0003t0142g0024 a0001c0003t0143g0024 a0001c0003t0147g0010 a0001c0004t0037g0089	228	362	0.6298	-38	c.562 others(52): Show c.562-108_562-71delCTGATATTCCCGGGGATAGCCTAAGAACAGT GTGTTTC		ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL6IP5_chr3_69079937_69111092	69107068	AGAGTTTA others(31): Show AGAGTTTAGCCTCTTAGATGTAGTATGTGCTAGACACTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0108 a0001c0001t0015g0108	1	432	0.0023	-38	c.24 others(49): Show c.2433_*2470delGAGTTTAGCCTCTTAGATGTAGTATGTGCTAGAC ACTT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					977		chr3	TogoVar
ARPC5L_chr9_124857130_124882733	124876636	CTCTGCTT others(31): Show CTCTGCTTTGTGTGCTGGTGACAGTGTTCTCAAGCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	402	0.0025	-38	c.400 others(53): Show c.400-236_400-199delTTTGTGTGCTGGTGACAGTGTTCTCAAGCC AGTTCTGC		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
ARSJ_chr4_113895284_113984647	113924056	AATATATA others(31): Show AATATATATAAATATATATAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0228 a0005c0009t0002g0228	1	328	0.0030	-38	c.399 others(57): Show c.399-20419_399-20382delATATATATATATATATATTTATATAT ATTTATATATAT		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ART1_chr11_3640128_3669416	3663066	ATCTCATC others(31): Show ATCTCATCTCATCATCTCATCTCATCATCTCATCTCATC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0010 a0003c0003t0002g0010	1	362	0.0028	-38	c.887 others(54): Show c.887-1023_887-986delTCATCTCATCATCTCATCTCATCATCTCA TCTCATCTC		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
ART4_chr12_14820569_14848526	14830649	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0289 a0001c0001t0006g0289	1	79	0.0127	-38	c.854 others(55): Show c.854-1225_854-1188delTATATATATATATATATATATATATATA TATATATATA		ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2						chr12	TogoVar
ASAP1_chr8_130047104_130448674	130069877	TGGCTCAA others(31): Show TGGCTCAACCCTTGGCAGAAGACCCAAAGCTTTTTGCGC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0199 a0001c0001t0017g0199	1	306	0.0033	-38	c.270 others(57): Show c.2701+6433_2701+6470delGCGCAAAAAGCTTTGGGTCTTCTGCC AAGGGTTGAGCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASB18_chr2_236188459_236269406	236237400	GGGGCGCG others(31): Show GGGGCGCGGGGCGGGGGCCGGGGCCGGGGCGCGGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0018 a0001c0024t0018	a0001c0024t0018g0061 a0001c0024t0018g0061	1	248	0.0040	-38	c.596 others(53): Show c.596+251_596+288delTCGCCCCGCGCCCCGGCCCCGGCCCCCGCC CCGCGCCC		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5						chr2	TogoVar
ASB1_chr2_238421927_238457250	238455785	TGGGGACT others(31): Show TGGGGACTATAATTCAAGATGAGATTTGGCTGGGGACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0122 a0001c0001t0024g0122	1	414	0.0024	-38	c.92 others(49): Show c.9275_*9312delGGGGACTATAATTCAAGATGAGATTTGGCTGGGG ACAC		ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding					3536		chr2	TogoVar
ASB5_chr4_176208673_176274222	176218554	TATATATT others(31): Show TATATATTTGTATGATATATAAATATATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	389	0.0026	-38	c.671 others(55): Show c.671-1583_671-1546delCATACAAATATATATATTTATATATCAT ACAAATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219537	TATATATG others(31): Show TATATATGTATGATATATAAATATGTATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG06807.hp1 others(2): Show HG00741.hp2 HG01891.hp1 HG06807.hp1 NA18939.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0221 a0001c0001t0001g0303 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0221 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0334	5	408	0.0123	-38	c.670 others(55): Show c.670+1580_670+1617delCATACAAATATATACATATTTATATATC ATACATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0164 a0006c0008t0002g0164	1	180	0.0056	-38	c.-20 others(49): Show c.-2026_-1989delATATATATATATATATATATATATATATATATAT TTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1886		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	22	0.0455	-38	c.542 others(55): Show c.542-2368_542-2331delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT		ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19						chr22	TogoVar
ASMTL_chrX_1398139_1457909	1443048	CACCATCG others(31): Show CACCATCGTGGACACACACCGTCGTCGTGGACACACACT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG01975.hp2 others(2): Show HG00741.hp1 HG01123.hp2 HG01975.hp2 HG02683.hp2 HG02723.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0037 a0002c0004 a0003c0006 others(1): Show a0001c0037 a0002c0004 a0003c0006 a0003c0039	a0001c0037t0001 a0002c0004t0001 a0003c0006t0001 others(1): Show a0001c0037t0001 a0002c0004t0001 a0003c0006t0001 a0003c0039t0001	a0001c0037t0001g0005 a0002c0004t0001g0006 a0002c0004t0001g0013 others(2): Show a0001c0037t0001g0005 a0002c0004t0001g0006 a0002c0004t0001g0013 a0003c0006t0001g0010 a0003c0039t0001g0011	5	178	0.0281	-38	c.94- others(51): Show c.94-769_94-732delAGTGTGTGTCCACGACGACGGTGTGTGTCCAC GATGGT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1443056	TGGACACA others(31): Show TGGACACACACCGTCGTCGTGGACACACACTGCCATCTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 NA19240.hp1 HG02630.hp2 HG02886.hp1 NA19240.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0034 a0003c0002 a0005c0034	a0003c0002t0001 a0005c0034t0001 a0003c0002t0001 a0005c0034t0001	a0003c0002t0001g0161 a0003c0002t0001g0162 a0005c0034t0001g0113 a0003c0002t0001g0161 a0003c0002t0001g0162 a0005c0034t0001g0113	3	183	0.0164	-38	c.94- others(51): Show c.94-777_94-740delCAGATGGCAGTGTGTGTCCACGACGACGGTGT GTGTCC		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1453754	AGTGGAGA others(31): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01516.hp2 HG01884.hp1 others(1): Show HG00741.hp1 HG01516.hp2 HG01884.hp1 HG02723.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0037 a0002c0004 a0011c0040 a0001c0037 a0002c0004 a0011c0040	a0001c0037t0001 a0002c0004t0001 a0011c0040t0001 a0001c0037t0001 a0002c0004t0001 a0011c0040t0001	a0001c0037t0001g0005 a0002c0004t0001g0006 a0002c0004t0001g0095 others(1): Show a0001c0037t0001g0005 a0002c0004t0001g0006 a0002c0004t0001g0095 a0011c0040t0001g0046	4	130	0.0308	-38	c.-95 others(47): Show c.-952_-915delGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC AC		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding					846		chrX	TogoVar
ASNS_chr7_97846677_97877408	97876859	GCAAAATT others(31): Show GCAAAATTTTAGTGGACGCTGTAATGACTTTAGGTATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	434	0.0023	-38	c.-46 others(49): Show c.-4606_-4569delATATACCTAAAGTCATTACAGCGTCCACTAAAAT TTTG		ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding					4452		chr7	TogoVar
ASPDH_chr19_50506603_50518913	50507969	AACTCTGC others(31): Show AACTCTGCCCTGTCCCCAAGTCCTGTCTCTCCTGCCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01261.hp1 others(24): Show HG01070.hp1 HG01109.hp1 HG01261.hp1 HG02109.hp1 HG02145.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009	27	370	0.0730	-38	c.37 others(49): Show c.3723_*3760delCAGGGCAGGAGAGACAGGACTTGGGGACAGGGCA GAGT		ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding					3633		chr19	TogoVar
ASPG_chr14_104080700_104120582	104093622	CTGGGTGG others(31): Show CTGGGTGGGGCTGTGGTGTGTGGGTGGGGCTGAGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(151): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0011	a0002c0002 a0002c0003 a0002c0005 others(7): Show a0002c0002 a0002c0003 a0002c0005 a0002c0010 a0002c0013 a0002c0016 a0002c0026 a0005c0017 a0007c0014 a0011c0015	a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 others(27): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0002t0022 a0002c0002t0027 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0016 a0002c0003t0017 a0002c0003t0018 a0002c0003t0021 a0002c0003t0037 a0002c0003t0038 a0002c0005t0002 a0002c0005t0008 a0002c0010t0002 a0002c0013t0039 a0002c0016t0006 a0002c0026t0006 a0005c0017t0003 a0007c0014t0017 a0011c0015t0002	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 others(103): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0156 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0207 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0005g0169 a0002c0002t0008g0047 a0002c0002t0013g0181 a0002c0002t0013g0190 a0002c0002t0013g0191 a0002c0002t0015g0043 a0002c0002t0015g0155 a0002c0002t0019g0167 a0002c0002t0022g0041 a0002c0002t0027g0197 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0048 a0002c0003t0001g0058 a0002c0003t0001g0189 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0209 a0002c0003t0001g0227 a0002c0003t0002g0010 a0002c0003t0002g0171 a0002c0003t0002g0200 a0002c0003t0005g0022 a0002c0003t0005g0059 a0002c0003t0005g0060 a0002c0003t0005g0061 a0002c0003t0005g0062 a0002c0003t0005g0177 a0002c0003t0006g0053 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0232 a0002c0003t0006g0233 a0002c0003t0006g0234 a0002c0003t0009g0046 a0002c0003t0009g0172 a0002c0003t0009g0175 a0002c0003t0009g0176 a0002c0003t0009g0220 a0002c0003t0010g0154 a0002c0003t0010g0231 a0002c0003t0011g0159 a0002c0003t0016g0158 a0002c0003t0016g0160 a0002c0003t0016g0163 a0002c0003t0017g0157 a0002c0003t0017g0164 a0002c0003t0018g0170 a0002c0003t0018g0174 a0002c0003t0021g0173 a0002c0003t0021g0178 a0002c0003t0037g0162 a0002c0003t0038g0044 a0002c0005t0002g0045 a0002c0005t0002g0168 a0002c0005t0002g0215 a0002c0005t0008g0206 a0002c0005t0008g0221 a0002c0010t0002g0050 a0002c0013t0039g0161 a0002c0016t0006g0205 a0002c0026t0006g0213 a0005c0017t0003g0222 a0007c0014t0017g0044 a0011c0015t0002g0228	154	366	0.4208	-38	c.303 others(51): Show c.303+52_303+89delAGGTGTGTGGGTGGGGCTGTGGTGTGTGGGTG GGGCTG		ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	77	0.0130	-38	c.492 others(57): Show c.492-13689_492-13652delATATATATATATATATATATATATAT ATATATATATAT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATAD5_chr17_30826966_30900869	30850849	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19063.hp2 HG02300.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0003 a0002c0002t0002g0014	2	236	0.0085	-38	c.245 others(57): Show c.2451-4292_2451-4255delATATATATATATATATATATTTTTTT TTTTTTTTTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATCAY_chr19_3875685_3933082	3879507	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	296	0.0034	-38	c.-15 others(49): Show c.-1542_-1505delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding					1177		chr19	TogoVar
ATG2B_chr14_96274195_96368341	96308219	AATATATA others(31): Show AATATATATATACATATATATATATATATATATACACAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG03516.hp2 others(1): Show HG02922.hp1 HG03139.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0044 a0001c0003t0045 others(1): Show a0001c0003t0023 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046	a0001c0003t0023g0238 a0001c0003t0044g0237 a0001c0003t0045g0240 others(1): Show a0001c0003t0023g0238 a0001c0003t0044g0237 a0001c0003t0045g0240 a0001c0003t0046g0236	4	348	0.0115	-38	c.430 others(57): Show c.4303+1196_4303+1233delGTGTGTATATATATATATATATATAT GTATATATATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308231	CATATATA others(31): Show CATATATATATATATATATATACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0008 a0003c0004t0004g0008	2	280	0.0071	-38	c.430 others(57): Show c.4303+1184_4303+1221delATATATATATATGTGTGTATATATAT ATATATATATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG4A_chrX_108086778_108159671	108148020	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(41): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG04228.hp1 NA19082.hp1 NA19088.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0191 a0002c0003t0001g0192	44	48	0.9167	-38	c.815 others(55): Show c.815-2113_815-2076delATATATATATATATATATATATATATAT ATATATATAT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATL2_chr2_38288954_38382273	38325609	TACACACA others(31): Show TACACACACACCAGTACATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0004 a0001c0003t0025g0004	1	232	0.0043	-38	c.364 others(55): Show c.364-6628_364-6591delGTGTGTGTGTGTGTGTGTGTATGTACTG GTGTGTGTGT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATP10B_chr5_160558120_160857211	160652915	ATATATAA others(31): Show ATATATAATATATTATATATACATGTATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0218 a0001c0002t0006g0218	1	232	0.0043	-38	c.676 others(55): Show c.676-3697_676-3660delATATATTATATATACATGTATATATAAT ATATTATATA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP12A_chr13_24675408_24717472	24681195	GAGGAAAC others(31): Show GAGGAAACCTCGAGGTGCCTAAGGAACCTCGAGGTTCTA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0251 a0001c0003t0002g0251	1	380	0.0026	-38	c.10- others(51): Show c.10-356_10-319delGAGGTGCCTAAGGAACCTCGAGGTTCTAAGGA AACCTC		ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2A1_chr16_28873488_28909466	28902839	TCGAGGCC others(31): Show TCGAGGCCCCCGAGCCCATGACCATGGCCCTGTCCGTGC	T T	frameshift_variant frameshift_variant	HIGH	NA18948.hp2 NA18948.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0212 a0008c0012t0001g0212	1	378	0.0026	-38	c.267 others(47): Show c.2673_2710delCGAGGCCCCCGAGCCCATGACCATGGCCCTGTCCGT GC	p.Glu others(5): Show p.Glu892fs	ATP2A1	ENSG00000196296.14	transcript	ENST00000395503.9	protein_coding	19/23	2857/3493	2673/2985	891/994			chr16	TogoVar
ATP2A3_chr17_3918873_3969437	3925685	TCCAGTAC others(31): Show TCCAGTACATACTCTCCTGGTTTTCATTTTGGGGAATCA	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0185 a0001c0001t0029g0185	1	330	0.0030	-38	c.298 others(55): Show c.2981-282_2981-245delTGATTCCCCAAAATGAAAACCAGGAGAG TATGTACTGG		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	20/20						chr17	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784235	CGTATATA others(31): Show CGTATATATATATATATACATATATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	147	0.0068	-38	c.-18 others(55): Show c.-18+1885_-18+1922delATATATGTATATATATATATGTATATAT ATATATATAC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21						chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145217	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01943.hp1 HG02055.hp2 others(14): Show HG00738.hp2 HG01943.hp1 HG02055.hp2 HG02080.hp2 HG02647.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 NA18973.hp2 NA18986.hp2 NA19043.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0163 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0276 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0317 a0001c0001t0002g0112 a0001c0001t0002g0183 a0001c0001t0002g0312 a0001c0001t0002g0333 a0001c0001t0003g0219 a0001c0001t0005g0012 a0002c0002t0001g0015 a0002c0002t0001g0332	17	358	0.0475	-38	c.639 others(55): Show c.639+2283_639+2320delGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGA		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86150476	ATTTTTAA others(31): Show ATTTTTAAAGTTCCTGCCAAGCAAGTACTTGTTTAAATC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	358	0.0028	-38	c.816 others(53): Show c.816+190_816+227delTTTTAAAGTTCCTGCCAAGCAAGTACTTGT TTAAATCT		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	CATATATA others(31): Show CATATATATATATATATATATATGTGTATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01346.hp2 HG01515.hp2 others(16): Show HG00609.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp2 HG03516.hp1 NA18966.hp1 NA18983.hp1 NA18988.hp1 NA18992.hp1 NA19058.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0183 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0177 a0001c0001t0002g0207 a0001c0001t0002g0220 a0001c0001t0002g0250 a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0006g0181	19	296	0.0642	-38	c.-46 others(49): Show c.-4646_-4609delATATATATATATACACATATATATATATATATAT ATAT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					3875		chr2	TogoVar
ATP8A1_chr4_42403373_42662105	42555095	ATCTATCT others(31): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0187 a0001c0001t0021g0187	1	308	0.0032	-38	c.141 others(55): Show c.1413+835_1413+872delGATAGATAGATAGATAGATAGATAGATA GATAGATAGA		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36						chr4	TogoVar
ATP8B1_chr18_57641426_57808315	57661623	GTGCGTGT others(31): Show GTGCGTGTGTATGTATATACACACGCACACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0143 a0001c0001t0010g0143	1	312	0.0032	-38	c.241 others(55): Show c.2419-199_2419-162delTACATATATGTGTGCGTGTGTATATACA TACACACGCA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	21/27						chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50072952	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0225 a0003c0003t0001g0225	1	251	0.0040	-38	c.87+ others(53): Show c.87+1137_87+1174delTATATATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072962	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	237	0.0042	-38	c.87+ others(53): Show c.87+1127_87+1164delTATATATATATATATATATAGAGAGAGAGA GAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072966	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	240	0.0042	-38	c.87+ others(53): Show c.87+1123_87+1160delTATATATATATATATATATATATAGAGAGA GAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP9B_chr18_79064394_79383283	79066789	GAGATATT others(31): Show GAGATATTGTTGTCACTGTCAGGTGTTGAGTGAGGGTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0129 a0001c0003t0003g0129	1	296	0.0034	-38	c.-26 others(49): Show c.-2621_-2584delAGATATTGTTGTCACTGTCAGGTGTTGAGTGAGG GTAT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding					2604		chr18	TogoVar
ATP9B_chr18_79064394_79383283	79334979	GCCCTCAC others(31): Show GCCCTCACGCGTCTGTTCCTGTGGCCGCATGAGGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02293.hp2 HG03540.hp2 HG02109.hp1 HG02293.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0287 a0001c0006t0007g0288 a0001c0006t0007g0290 a0001c0006t0007g0287 a0001c0006t0007g0288 a0001c0006t0007g0290	3	296	0.0101	-38	c.202 others(57): Show c.2029-1643_2029-1606delACGCGTCTGTTCCTGTGGCCGCATGA GGCCTGTCCCTC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0027 a0002c0002t0003g0027	1	22	0.0455	-38	c.513 others(57): Show c.5135-5534_5135-5497delATATATATATATATATATATATATAT ATATATATATAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77777033	GACAATGT others(31): Show GACAATGTAAATAAATGGACATAGGTGTATTCCAATAGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	216	0.0046	-38	c.20+ others(53): Show c.20+8911_20+8948delTCTATTGGAATACACCTATGTCCATTTATT TACATTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar

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